Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.
Maw
M
M
Biochemistry Department, University of Otago, Dunedin, New Zealand.
Kumaramanickavel
G
G
Kar
B
B
John
S
S
Bridges
R
R
Denton
M
M
D000293:Adolescent; D000328:Adult; D019393:Arrestin / Q000235:genetics*; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D019393:Arrestin; D018388:Codon, Terminator; D004247:DNA